Friday, February 5, 2010

Friday, February 5th, 2010

It's been almost two years since my parents donated some of my blood for testing to the University of Washington. At the time, they had identified a particular gene that they thought may be related to Nager Syndrome. We recently received a letter letting us know that the research studies on the COL27A1 gene showed that I did not have a mutation of that gene. Meanwhile, the same researches recently completed whole exome sequencing and identified the gene mutation that causes Miller Syndrome - a very similar syndrome to Nager. Miller is caused by the gene DHODH and it confirmed that Miller is autosomal inheritance which means each parent must carry one copy of the mutation in the gene to have a child with the syndrome. So now the researchers have asked my parents if they can use my previously submitted DNA sample to do whole exome sequencing to try to find the gene that causes Nager Syndrome. It's very exciting to know that within a few months there may be an answer!

Peyton Nicole Smith

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